Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.

ABSTRACT:

Introduction

Variants in SMAD4 or BMPR1A cause juvenile polyposis syndrome, a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. A phenotype of attenuated adenomatous polyposis without hamartomatous polyps is rare.

Methods

We describe a retrospective cohort of individuals with SMAD4 or BMPR1A heterozygous germline variants, having ≥10 cumulative colorectal adenomas and/or colorectal cancer without hamartomatous polyps. All individuals had multigene panel and duplication/deletion analysis to exclude other genetic syndromes.

Results

The study cohort included 8 individuals. The pathogenic potential of the variants was analyzed. Variants detected included 4 missense variants, 1 nonsense variant, 1 splice site variant, and 2

SUBMITTER: Rosner G 

PROVIDER: S-EPMC9624493 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature